Functional analyses of splice site variants in TCF12
Hum Genomics. 2025 Apr 26;19(1):45. doi: 10.1186/s40246-025-00758-1. ABSTRACT Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can …
Month: April 2025
Socio-economic and geographic equity in maternal health services utilization in Ethiopia: a community-based cross-sectional study
BMC Health Serv Res. 2025 Apr 26;25(1):610. doi: 10.1186/s12913-025-12639-3. ABSTRACT BACKGROUND: Addressing disparities in reproductive, maternal, newborn, and child health services is crucial in achieving …
Characterization and comparative profiling of piRNAs in serum biopsies of pediatric Wilms tumor patients
Cancer Cell Int. 2025 Apr 26;25(1):163. doi: 10.1186/s12935-025-03780-4. ABSTRACT Piwi-interacting RNAs (piRNAs) are small non-coding RNAs involved in transposon silencing and linked to cancer progression. …
Perspectives on the current diagnostic and treatment paradigms in secondary hemophagocytic lymphohistiocytosis (HLH)
Orphanet J Rare Dis. 2025 Apr 26;20(1):200. doi: 10.1186/s13023-025-03698-0. ABSTRACT Improved awareness of hemophagocytic lymphohistiocytosis (HLH) among clinicians has led to an increase in its …
Epidemiology and management of massive, sub-massive, and non-massive pediatric pulmonary embolism: a systematic reviews
BMC Pediatr. 2025 Apr 26;25(1):330. doi: 10.1186/s12887-025-05472-4. ABSTRACT OBJECTIVE: To evaluate the current evidence on the diagnosis, management, and outcomes of pediatric pulmonary embolism (PE) …
Prognostic impact of dose reduced S-1 adjuvant chemotherapy in patients with pancreatic ductal adenocarcinoma: a retrospective multicenter study
Int J Clin Oncol. 2025 Apr 26. doi: 10.1007/s10147-025-02742-0. Online ahead of print. ABSTRACT BACKGROUND: The standard adjuvant chemotherapy for pancreatic ductal adenocarcinoma (PDAC) in …
Everolimus and sirolimus in the treatment of cardiac rhabdomyomas in neonates
Pediatr Res. 2025 Apr 26. doi: 10.1038/s41390-025-04043-8. Online ahead of print. ABSTRACT BACKGROUND AND OBJECTIVES: Cardiac rhabdomyoma (CR) is the principal cardiac tumor diagnosed in …
L-lactate provision in preterm newborns: friend or foe?
Pediatr Res. 2025 Apr 26. doi: 10.1038/s41390-025-04104-y. Online ahead of print. NO ABSTRACT PMID:40287605 | DOI:10.1038/s41390-025-04104-y
Porous perspectives: a comprehensive review of medullary sponge kidney
Int Urol Nephrol. 2025 Apr 26. doi: 10.1007/s11255-025-04531-0. Online ahead of print. ABSTRACT BACKGROUND AND AIM: Medullary sponge kidney (MSK), a congenital abnormality characterized by …
The Role of Discrimination, Childhood Maltreatment, and Social Determinants of Health in Adult BIPOC Pain Disparities
J Racial Ethn Health Disparities. 2025 Apr 26. doi: 10.1007/s40615-025-02422-9. Online ahead of print. ABSTRACT OBJECTIVES: Chronic pain disproportionately affects Black and Indigenous people and …